Article

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family

2022-07-25

Abstract excerpt

<h4>Background: </h4> Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected. Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs and UBCA identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful va...

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Literature Corpus work: ad2642a8-1769-5a2d-a90b-d69a851a11b2
DOI: 10.21203/rs.3.rs-1858691/v1

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